A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653256



Internal ID13735202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38243707..38243707hg38UCSC Ensembl
Innerchr21:38243706..38243708hg38UCSC Ensembl
Outerchr21:38243657..38243757hg38UCSC Ensembl
chr21:39615629..39615629hg19UCSC Ensembl
Innerchr21:39615628..39615630hg19UCSC Ensembl
Outerchr21:39615579..39615679hg19UCSC Ensembl
chr21:38537499..38537499hg18UCSC Ensembl
Innerchr21:38537500..38537498hg18UCSC Ensembl
Outerchr21:38537449..38537549hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38701
hg19701
hg18701
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3387523
Supporting Variants
SamplesNA12892
Known GenesKCNJ15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653256
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer